Population Screening for Fragile X
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Neurological Findings in Patients with the Fragile-X Syndrome
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A 6-Year-Old Girl with Progressive Toe Walking
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Dopamine-Responsive Dystonia
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Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
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Learning Disability
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Distal Myopathies:Clinical and Molecular Diagnosis and Classification
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Diagnosis of Merosin (Laminin-2) Deficient Congenital Muscular Dystrophy by Skin Biopsy
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Intelligence and the X Chromosome
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X-Linked Malformation of Neuronal Migration
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Genetic Factors in Alzheimer's Disease:A Review of Recent Advances
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Charcot-Marie-Tooth Disease and Related Inherited Neuropathies
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Confirmation of Linkage of Oculopharyngeal Muscular Dystrophy to Chromosome 14q11. 2-q13
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Dopamine, Dystonia, and the Deficient Co-Factor
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Clinical Genetics in Neurological Disease
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Advances in Molecular Analysis of Fragile X Syndrome
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Molecular Genetic Advances in Fragile X Syndrome
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Lissencephaly:A Human Brain Malformation Associated with Deletion of the LIS1 Gene Located at Chromosome 17p13
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Girls with Fragile X Syndrome:Physical and Neurocognitive Status and Outcome
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Unstable DNA Sequence in Myotonic Dystrophy
Lancet 339:1125-1128, Harley,H.G.,et al, 1992
Duplication of Part of Chromosome 17 is Commonly Associated with HMSN Type I (Charcot-Marie-Tooth Disease Type 1)
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De-Novo Mutation in Hereditary Motor and Sensory Neuropathy Type I
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Causal Heterogeneity in Isolated Lissencephaly
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Mental Retardation in Turner Syndrome
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Neurofibromatosis 2 (Bilateral Acoustic Neuro-fibromatosis)
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Genetic Markers for Neurofibromatosis
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False Negative Results in Patients with fra (X) (q) Mental Retardation Taking Oral Vitamin Supplements
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Hereditary Motor & Sensory Neuropathy, X-Linked:A Half Century Follow-Up
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Heterozygous Expression Of X-Linked Mental Retardation & X-chromosome Marker fra (X) (q27)
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X-Linked Mental Retardation
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The Fragile X-Chromosome Mental Retardation & Large Testes
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